Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay

Maier, Felicitas; Frühwald, Michael C.; Heinrich, Uwe; Schimmel, Mareike; Wahl, Dagmar; Eggermann, Thomas

doi:10.1097/mcd.0000000000000378

Cited by 1 publication

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References 11 publications

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“…Three further cases with the partial duplication of the telomeric domain, involving H19 but not IGF2 , displayed growth retardation, but two of them had additional cytogenetic anomalies that might also explain this phenotype [ 14 , 15 , 19 ]. Finally, a somatic maternal 11p15 duplication has been identified on the smaller side of the face of a patient with body asymmetry [ 20 ]. The duplication of our patient is mosaic, maternal, includes the entire telomeric domain and the centromeric domain but not CDKN1C , and is not associated with any further cytogenetic anomalies.…”

Section: Discussionmentioning

confidence: 99%

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

Passaretti

Pignata

Vitiello

et al. 2022

Genes

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Silver–Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci. In the majority of cases, the molecular defect is the loss of methylation (LOM) of the H19/IGF2 differentially methylated region (DMR, also known as IC1) at the telomeric domain of the 11p15.5 imprinted genes cluster, which causes the altered expression of the growth controlling genes, IGF2 and H19. Very rarely, the LOM also affects the KCNQ1OT1 DMR (also known as IC2) at the centromeric domain, resulting in an SRS phenotype by an unknown mechanism. In this study, we report on two cases with SRS features and a LOM of either IC1 and IC2. In one case, this rare and complex epimutation was secondary to a de novo mosaic in cis maternal duplication, involving the entire telomeric 11p15.5 domain and part of the centromeric domain but lacking CDKN1C. In the second case, neither the no 11p15.5 copy number variant nor the maternal-effect subcortical maternal complex (SCMC) variant were found to be associated with the epimutation, suggesting that it arose as a primary event. Our findings further add to the complexity of the molecular genetics of SRS and indicate how the LOM in both 11p15.5 DMRs may result from different molecular mechanisms.

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Section: Discussionmentioning

confidence: 99%

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

Passaretti

Pignata

Vitiello

et al. 2022

Genes

View full text Add to dashboard Cite

show abstract

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay

Abstract: AsymmetryDevelopmental delay Overgrowth Growth retardation Scoliosis Hemangioma Broad forhead Small chin At the age of 3.5 years, our patient was a thin girl with a proportional small head [body height 105 cm (P86), bodyweight

Cited by 1 publication

References 11 publications

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

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